Abstract:
:Birt-Hogg-Dubé syndrome (BHD) is a rare, inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors and spontaneous pneumothorax. The BHD locus was mapped to chromosome 17p11.2 by linkage analysis, and germline mutations in a novel gene (BHD) were identified in a panel of BHD families. Using RNA interference to decrease expression of the Drosophila BHD homolog (DBHD), we have demonstrated that DBHD is required for male germline stem cell (GSC) maintenance in the fly testis. Reduction of DBHD gene activity suppresses the GSC overproliferation phenotype associated with overexpression of either unpaired (upd) or decapentaplegic (dpp). Further genetic interaction experiments suggest that DBHD regulates GSC maintenance downstream or in parallel of the JAK/STAT and Dpp signal-transduction pathways. These findings suggest that the BHD protein may regulate tumorigenesis through modulating stem cells in human.
journal_name
Oncogenejournal_title
Oncogeneauthors
Singh SR,Zhen W,Zheng Z,Wang H,Oh SW,Liu W,Zbar B,Schmidt LS,Hou SXdoi
10.1038/sj.onc.1209593subject
Has Abstractpub_date
2006-09-28 00:00:00pages
5933-41issue
44eissn
0950-9232issn
1476-5594pii
1209593journal_volume
25pub_type
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